Researchers at the Garvan Institute of Medical Research in Sydney and collaborators in Australia, the U.K., and Israel have developed a DNA test that studies suggest can identify a range of ...

A genomic test developed at UC San Francisco to rapidly detect almost any kind of pathogen – virus, bacteria, fungus or parasite – has proved successful after a decade of use. The test has the ...

A U.K. program—similar to one launched in New York last fall— will begin genome sequencing on 100,000 babies this year to figure out whether screening newborns for a wide range of conditions is ...

A new national study has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in ...

Early detection and diagnosis of inherited conditions in newborns and infants can lead to more effective therapies and better health outcomes Early detection and diagnosis of inherited conditions in ...

What should have been one of the most joyous times of Dr. Naseem Khorram’s life turned into one of the most terrifying. The Los Angeles-based nephrologist was getting routine bloodwork during her ...

There are more than 7,000 rare disorders, and many cannot be diagnosed in a doctor’s office. That’s why genetic sequencing is so important. Now The Jackson Laboratory in Farmington is able to sequence ...

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying ...

UNDATED (WKRC) - Researchers claim they have developed a process that can detect and identify nearly any infectious agent in a patient with just a single test. A new study from Nature Medicine ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...